Variant report

Variant	rs17275136
Chromosome Location	chr7:137621068-137621069
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr7:137620540-137621140	NB4	blood:	n/a	n/a
2	MAX	chr7:137620558-137621403	NB4	blood:	n/a	n/a
3	NR2F2	chr7:137620067-137621286	K562	blood:	n/a	chr7:137620735-137620750
4	HCFC1	chr7:137620504-137621123	K562	blood:	n/a	n/a
5	POLR2A	chr7:137620976-137621299	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:137620402-137621255	HL-60	blood:	n/a	n/a
7	EGR1	chr7:137620652-137621080	MCF-7	breast:	n/a	chr7:137620707-137620716 chr7:137620865-137620880
8	BHLHE40	chr7:137620574-137621144	K562	blood:	n/a	n/a
9	TEAD4	chr7:137620131-137621262	K562	blood:	n/a	n/a
10	NR2F2	chr7:137620645-137621127	MCF-7	breast:	n/a	chr7:137620735-137620750
11	POLR2A	chr7:137617304-137621222	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:137620160..137621730-chr7:137691300..137693565,2	MCF-7	breast:
2	chr7:137619246..137622854-chr7:137682713..137686861,5	K562	blood:
3	chr7:137619156..137621856-chr7:137650615..137653310,2	MCF-7	breast:
4	chr7:137620870..137622447-chr7:137627955..137630199,2	K562	blood:
5	chr7:137620440..137622660-chr7:137629916..137631573,2	MCF-7	breast:
6	chr7:137620168..137621846-chr7:137623700..137626526,2	K562	blood:
7	chr7:137619037..137621217-chr7:137637185..137638746,2	MCF-7	breast:

No data

Variant related genes	Relation type
CREB3L2	TF binding region
ENSG00000237243	Chromatin interaction
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10224250	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260415	1.00[CEU][hapmap]
rs10267160	0.91[CEU][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap]
rs10488443	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[ASN][1000 genomes]
rs11970829	1.00[CHB][hapmap]
rs12533090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536683	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13228781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13245803	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169459	0.91[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs17183616	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17190292	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17190987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs34100060	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs34786382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34814437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34878104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34924702	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35503163	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35615147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35988674	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36086400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4732274	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765857	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777412	0.83[AMR][1000 genomes]
rs7812168	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9691292	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137615000-137622200	Enhancers	HUVEC	blood vessel
2	chr7:137615600-137635600	Weak transcription	Hela-S3	cervix
3	chr7:137616200-137622200	Enhancers	Fetal Intestine Large	intestine
4	chr7:137617000-137622200	Enhancers	Small Intestine	intestine
5	chr7:137617000-137622400	Enhancers	Colon Smooth Muscle	Colon
6	chr7:137617200-137622200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:137617200-137627400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr7:137617400-137622200	Enhancers	Fetal Heart	heart
9	chr7:137617400-137622200	Enhancers	HSMM	muscle
10	chr7:137617400-137622400	Enhancers	Fetal Muscle Leg	muscle
11	chr7:137617600-137621200	Genic enhancers	HepG2	liver
12	chr7:137617600-137622200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:137617600-137622200	Enhancers	Brain Anterior Caudate	brain
14	chr7:137618200-137621400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:137618200-137621400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr7:137618200-137622400	Enhancers	HMEC	breast
17	chr7:137618200-137622600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:137618200-137622600	Enhancers	Osteobl	bone
19	chr7:137618200-137637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr7:137618400-137622000	Enhancers	Fetal Thymus	thymus
21	chr7:137618400-137622400	Enhancers	NHLF	lung
22	chr7:137618600-137621400	Flanking Active TSS	GM12878-XiMat	blood
23	chr7:137618600-137627600	Weak transcription	A549	lung
24	chr7:137618600-137628000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:137618800-137621200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:137618800-137621400	Weak transcription	Fetal Muscle Trunk	muscle
27	chr7:137618800-137622400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:137618800-137622400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr7:137619000-137621200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:137619200-137621200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:137619200-137621600	Enhancers	Fetal Intestine Small	intestine
32	chr7:137619400-137621200	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr7:137619400-137622400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:137619400-137628000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr7:137619600-137621200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr7:137619600-137622000	Enhancers	Colonic Mucosa	Colon
37	chr7:137619800-137621400	Enhancers	Stomach Smooth Muscle	stomach
38	chr7:137619800-137621600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:137619800-137622000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:137620000-137625600	Weak transcription	NHEK	skin
41	chr7:137620200-137621200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:137620200-137621200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:137620200-137621200	Enhancers	Dnd41	blood
44	chr7:137620200-137622200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr7:137620200-137622200	Enhancers	Placenta Amnion	Placenta Amnion
46	chr7:137620200-137622400	Enhancers	Brain Substantia Nigra	brain
47	chr7:137620400-137621200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr7:137620400-137621200	Enhancers	Thymus	Thymus
49	chr7:137620400-137621600	Enhancers	Primary B cells from peripheral blood	blood
50	chr7:137620400-137621600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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